Engagement and Satisfaction With Care Navigation Support Following Telehealth Autism Evaluation.

OBJECTIVE: Care navigation support is designed to help connect families with health care resources. Given that children with autism have more unmet needs than their peers, such a service may be especially valuable to families who have recently received a diagnosis. This study sought to examine engagement in care navigation support after an autism telehealth evaluation. Specifically, we report on what demographic and diagnostic factors predicted engagement in care navigation support and satisfaction with this service. METHODS: Care navigation was offered to 220 families receiving autism telehealth evaluations between April 2020 and April 2022. Survey data from initial evaluation appointments and 2 follow-up care navigation meetings (approximately 1-3 months and approximately 9-12 months after evaluation), along with data from medical records, were collected and analyzed to determine whether any traits predicted engagement in care navigation. Satisfaction with care navigation was also analyzed. RESULTS: Of 220 families, 48.2% (n = 106) participated in a care navigation meeting within 1 to 3 months after an evaluation and 59.5% (n = 131) participated in at least 1 meeting across 2 time periods. The findings did not support the hypothesis that a diagnosis of autism would predict engagement. Analyses found that child sex (female compared with male) and child race and ethnicity (children of color compared with White children) predicted engagement. For those who engaged in care navigation, high satisfaction was reported. CONCLUSION: Participants' engagement rates and satisfaction levels suggest care navigation is a valuable service for families after a telehealth autism evaluation.

A 2-Year-Old Child with Alazami Syndrome with Newly Reported Findings of Immune Deficiency, Periventricular Nodular Heterotopia, and Stroke; Broadening the Phenotype of Alazami.

Alazami syndrome is a rare autosomal recessive neurodevelopmental disorder due to loss-of-function variants in the La ribonucleoprotein 7 (LARP7) gene. Children with Alazami syndrome are most often affected by a combination of primordial dwarfism, intellectual disability, and distinctive facial features. Previous cases have been primarily found in consanguineous families from the Middle East, Asia, and North Africa. We present a 21-month-old Caucasian male from the Midwest United States with nonconsanguineous parents who presented with frequently reported findings of unusual facial features, poor growth, cardiac and genitourinary findings, and developmental delay; less-frequently reported findings, including transient erythroblastopenia of childhood (TEC) and immune deficiency; and never-before reported findings of periventricular nodular heterotopia and stroke. He developed stroke during a hospitalization for Hemophilus influenzae meningitis. The possible contributions of LARP7 to TEC, immune deficiency, brain malformation, and stroke are discussed. Guidelines for the care of Alazami patients are proposed.

NICU discharge preparation and transition planning: foreword.

Parents whose babies are admitted to the neonatal intensive care unit (NICU) need support. Whether their baby's stay is brief or long, uncomplicated or complex, a NICU stay changes how they care for their infant and how they will parent once they are discharged. While we know a NICU stay is traumatic for most parents, the consequences of a family's time spent in the NICU do not need to be negative ones. Supportive NICU teams can use the time a family is in the NICU to engage in a well-designed discharge preparation and transition planning program. These programs can have a lasting positive impact on both the infant's health and the family's wellbeing.

NICU discharge preparation and transition planning: guidelines and recommendations.

In this section, we present Interdisciplinary Guidelines and Recommendations for Neonatal Intensive Care Unit (NICU) Discharge Preparation and Transition Planning. The foundation for these guidelines and recommendations is based on existing literature, practice, available policy statements, and expert opinions. These guidelines and recommendations are divided into the following sections: Basic Information, Anticipatory Guidance, Family and Home Needs Assessment, Transfer and Coordination of Care, and Other Important Considerations. Each section includes brief introductory comments, followed by the text of the guidelines and recommendations in table format. After each table, there may be further details or descriptions that support a guideline or recommendation. Our goal was to create recommendations that are both general and adaptable while also being specific and actionable. Each NICU's implementation of this guidance will be dependent on the unique makeup and skills of their team, as well as the availability of local programs and resources. The recommendations based only on expert opinion could be topics for future research.